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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
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Medical Genetics Test Details

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CDG Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Congenital Disorders of Glycosylation (CDG) are characterized by abnormal glycosylation of glycoproteins and glycolipids. Due to the diverse functions of glycoproteins and glycolipids, CDG often results in multisystem involvement. The clinical symptoms of CDG vary from hypoglycemia, gastrointestinal disorders, severe developmental delay or neurodegeneration, and may include death. The Congenital Disorders of Glycosylation (CDG) panel is useful for confirming or typing suspected cases of CDG.
Test Details
Test Code: 5095
Test Includes:
ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM3, GNE, MGAT2, MOGS, MPDU1, MPI, NGLY1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, TMEM165, and TUSC3


Special Notes: Thirty six nuclear encoded genes involved in the glycosylation of proteins and lipids are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. These genes are tabulated below and sequencing of subsets of the MitomeNGS panel may be ordered using the individual test codes listed.

All exons of these 36 genes are examined by NGS. Genes with known pseudogenes and low coverage exons are covered by Sanger sequencing. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (MitomeNGS®) will not detect genomic structural rearrangements (eg. deletions, duplications, and inversions), large insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.

Sequence analysis for two of the genes responsible for Congenital Disorders of Glycosylation (CDG) by Massively Parallel Sequencing (MitomeNGS) can also be ordered separately: MPI (#3450) and PMM2 (#3255).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: Please see "Test Includes" section.
Test Type: Next Generation Sequencing
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Purified DNA
Requirements: Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 56 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81405 x 1, 81406 x 1, 81479 x 34


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